A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17716126



Internal ID139792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:7078329..7578575hg38UCSC Ensembl
chr18:7078328..7578573hg19UCSC Ensembl
Cytoband18p11.23
Allele length
AssemblyAllele length
hg38500247
hg19500246
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6144985
Supporting Variants
Samples
Known GenesLAMA1, LRRC30, PTPRM
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17716126
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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